Canonical Allele Identifier: CA1104491914

Gene: PEX1

Linked Data

• dbSNP Id: rs1792003383
• gnomAD v3: 7-92502988-AT-A
• gnomAD v4: 7-92502988-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502989del , CM000669.2:g.92502989del	GRCh38
NC_000007.13:g.92132303del , CM000669.1:g.92132303del	GRCh37
NC_000007.12:g.91970239del	NCBI36
NG_008341.1:g.30543del
NG_008341.2:g.30543del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2226+52del MANE Select	ENSP00000248633.4:n.2226+52del
ENST00000248633.8:c.2226+52del	ENSP00000248633.4:n.2226+52del
ENST00000428214.5:c.2055+52del	ENSP00000394413.1:n.2055+52del
ENST00000438045.5:c.1260+52del	ENSP00000410438.1:n.1260+52del
ENST00000484913.5:n.2265+52del
ENST00000496092.1:n.24+52del
ENST00000496420.5:n.1902+52del
NM_000466.2:c.2226+52del	NP_000457.1:n.2226+52del
NM_001282677.1:c.2055+52del	NP_001269606.1:n.2055+52del
NM_001282678.1:c.1602+52del	NP_001269607.1:n.1602+52del
XM_005250433.3:c.477+52del	XP_005250490.1:n.477+52del
XR_242246.3:n.2322+52del
XM_017012319.2:c.477+52del	XP_016867808.1:n.477+52del
XR_001744808.2:n.1253+52del
XR_242246.5:n.2273+52del
NM_000466.3:c.2226+52del MANE Select	NP_000457.1:n.2226+52del
NM_001282677.2:c.2055+52del	NP_001269606.1:n.2055+52del
NM_001282678.2:c.1602+52del	NP_001269607.1:n.1602+52del